ATP1A4 - ATPase Na+/K+ transporting subunit alpha 4 Gene

中文名称：ATPase Na+/K+ 转运亚基 alpha 4

种属: Homo sapiens

同用名: ATP1A1; ATP1AL2

基因 ID: 480 | 基因类型: protein coding

关于 ATP1A4

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,151,603-160,186,980 (from NCBI)

This gene has 6 transcripts (splice variants), 573 orthologues and 21 paralogues. Biased expression in testis (RPKM 7.3), brain (RPKM 2.1) and 4 other tissues.

功能概要

该基因编码的蛋白质属于 P 型阳离子转运 ATP 酶家族，属于 Na+/K+ -ATP 酶亚家族。 Na+/K+ -ATPase 是一种完整的膜蛋白，负责建立和维持 Na 和 K 离子跨质膜的电化学梯度。这些梯度对于渗透调节、各种有机和无机分子的钠偶联转运以及神经和肌肉的电兴奋性至关重要。这种酶由两个亚基组成，一个大的催化亚基 (α) 和一个较小的糖蛋白亚基 (β) 。 Na+/K+ -ATPase 的催化亚基由多个基因编码。该基因编码一个 alpha 4 亚基。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This Enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP1A4 基因产物(2)

mRNA	Protein	Name
NM_001001734.2	NP_001001734.1	sodium/potassium-transporting ATPase subunit alpha-4 isoform 2
NM_144699.4	NP_653300.2	sodium/potassium-transporting ATPase subunit alpha-4 isoform 1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables ATPase-coupled monoatomic cation transmembrane transporter activity	IGI IGI: 通过遗传相互作用推断	16861705	GOA
enables P-type sodium:potassium-exchanging transporter activity	IGI IGI: 通过遗传相互作用推断	16861705	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16861705	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in flagellated sperm motility	IDA IDA: 通过直接分析推断	12112599	GOA
involved in flagellated sperm motility	IMP IMP: 通过突变表型推断	16861705	GOA
involved in potassium ion transmembrane transport	IGI IGI: 通过遗传相互作用推断	16861705	GOA
involved in regulation of cellular pH	IDA IDA: 通过直接分析推断	12112599	GOA
involved in sodium ion transmembrane transport	IGI IGI: 通过遗传相互作用推断	16861705	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in photoreceptor cell cilium	IDA IDA: 通过直接分析推断	26373354	GOA
located in rod photoreceptor outer segment	IDA IDA: 通过直接分析推断	26373354	GOA
part of sodium:potassium-exchanging ATPase complex	IPI IPI: 通过物理相互作用推断	16861705	GOA
located in sperm midpiece	IDA IDA: 通过直接分析推断	16861705	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ATP1A4 蛋白结构

Cation_ATPase_N

E1-E2_ATPase

Hydrolase

Cation_ATPase_C

0
200
400
600
800
1029 a.a.

蛋白主名

其他名称

sodium/potassium-transporting ATPase subunit alpha-4

ATPase, Na+/K+ transporting, alpha 4 polypeptide

关联疾病

疾病名称

别名

Charcot-Marie-Tooth Disease, Axonal, Type 2dd

CMT2DD	Charcot-Marie-Tooth Neuropathy, Type 2dd
Charcot-Marie-Tooth Disease Type 2dd	Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Atp1a1-Related Cmt2	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd
Charcot-Marie-Tooth Disease 2dd

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia	Ahc
Alternating Hemiplegia Syndrome	Hemiplegia, Alternating, Of Childhood
Hemiplegia, Crossed

Conn'S Syndrome

Cushing Syndrome	Hyperaldosteronism
Primary Hyperaldosteronism	Hypercortisolism
Primary Aldosteronism	Cushing'S Syndrome
Adrenal Gland Hyperfunction	Conn Syndrome
Hyperadrenalism	Ectopic Acth Syndrome
Hyperadrenocorticism	Cushing Disease
Cushing'S Disease	Adrenal Cortex Adenoma
Corticotroph Pituitary Adenoma	Pituitary Corticotroph Micro-Adenoma
Pituitary-Dependent Cushing Syndrome	Pituitary Acth Hypersecretion
Acth Syndrome, Ectopic	Acth-Secreting Pituitary Adenoma
Adrenal Hyperfunction Resulting From Pituitary Acth Excess	Ectopic Adrenocorticotropic Hormone Syndrome
Nodular Primary Adrenocortical Dysplasia	Pituitary Dependent Cushing Syndrome
Pituitary Cushing Syndrome	Pituitary-Dependant Cushing Syndrome
Pituitary-Dependant Hypercortisolism	Pituitary-Dependant Hypercortisolism Disorder
Aldosteronism Primary	Acth Syndrome Ectopic
Adrenal Cushing'S Syndrome	Adrenal Cortical Adenoma
Cushing Syndrome Nos	Cortisol Hypersecretion
Corticoadrenal Hypersecretion	Cushing Syndrome Secondary To Ectopic Acth-Secretion
Ectopic Cushing Syndrome	Hypercortisolism Due To Nonpituitary Tumour
Ectopic Acth - [Adrenocorticotropic Hormone] Secretion	Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
Idiopathic Aldosteronism	Aldosteronism
Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia	Primary Aldosteronism Due To Adrenal Hyperplasia

Parastremmatic Dwarfism

Parastremmatic Dysplasia	PSTD
Dwarfism, Parastremmatic

Hypomagnesemia 2, Renal

Renal Hypomagnesemia 2	HOMG2
Magnesium Wasting, Renal	Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria
Magnesium Loss, Isolated Renal	Isolated Autosomal Dominant Hypomagnesemia
Isolated Renal Magnesium Wasting	Renal Hypomagnesemia Type 2
Hypomagnesemia 2	Dominant Renal Hypomagnesemia
Hypomagnesemia With Hypocalciuria	Isolated Renal Magnesium Loss
Renal Magnesium Wasting	Hypomagnesemia-2, Renal
Renal Hypomagnesemia, Dominant	Hypomagnesemia, Type 2, Renal

Migraine, Familial Hemiplegic, 2

FHM2	Mhp2
Migraine, Familial Basilar	Familial Hemiplegic Migraine 2
Familial Hemiplegic Migraine-2	Familiar Basilar Migraine
Migraine, Hemiplegic, Familial, Type 2

Adrenal Carcinoma

Adrenal Cancer	Adrenal Gland Cancer
Malignant Neoplasm Of Adrenal Gland	Adrenal Gland Neoplasms
Carcinoma Of The Adrenal Gland	Adrenal Neoplasm
Malignant Adrenal Tumor	Neoplasm Of Adrenal Gland
Tumor Of The Adrenal Gland	Adrenal Gland Neoplasm
Adrenocortical Carcinoma	Adrenal Gland Malignancy
Suprarenal Cancer	Malignant Neoplasm Of Suprarenal Gland
Malignant Neoplasm Of Adrenal Gland, Unspecified	Malignant Tumour Of Adrenal Gland
Suprarenal Gland Cancer	Primary Malignant Neoplasm Of Adrenal Gland

Hyperaldosteronism, Familial, Type I

Glucocorticoid-Remediable Aldosteronism	Gra
Familial Hyperaldosteronism Type 1	Hyperaldosteronism, Familial Type 1
HALD1	Fh I
Glucocorticoid-Suppressible Hyperaldosteronism	Gsh
Acth-Dependent Hyperaldosteronism Syndrome	Aldosteronism, Glucocorticoid-Remediable
Dexamethasone Sensitive Hypertension	Glucocorticoid Sensitive Hypertension
Familial Hyperaldosteronism Type I	Fh1
Aldosteronism, Sensitive To Dexamethasone	Dexamethasone-Sensitive Hypertension
Fh-I	Glucocorticoid-Sensitive Hypertension
Hyperaldosteronism, Familial, 1	Aldosteronism Sensitive To Dexamethasone
Familial Hyperaldosteronism 1	Fh Type 1
Familial Aldosteronism Type I

Adrenal Adenoma

Adenoma Of The Adrenal Gland	Adrenal Incidentaloma
Adrenal Cortical Adenoma	Adrenocortical Adenoma

Adrenal Gland Disease

Adrenal Gland Diseases

Adrenal Gland Disorders

Primary Pigmented Nodular Adrenocortical Disease

Ppnad	Primary Pigmented Nodular Adrenal Dysplasia
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented Nodular Adrenocortical Disease, Primary, 1

Mitochondrial Dna Depletion Syndrome 3

Deoxyguanosine Kinase Deficiency	Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
MTDPS3	Dguok Deficiency
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form	Dguok-Related Mitochondrial Dna Depletion Syndrome
Hepatocerebral Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome, Hepatocerebral Form
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency	Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type	Mitochondrial Dna Depletion Syndrome , Type 3

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01185	ATP1A4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS01189	ATP1B4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ATP1A4	RGD	RGD:61952
Mus musculus	ATP1A4	MGD	MGI:1351335
Felis catus	ATP1A4	VGNC	VGNC:60018
Bos taurus	ATP1A4	VGNC	VGNC:26284

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ATP1A4 - ATPase Na+/K+ transporting subunit alpha 4 Gene

关于 ATP1A4

功能概要

ATP1A4 基因产物(2)

ATP1A4 蛋白结构

关联疾病

直系同源

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ATP1A4 - ATPase Na+/K+ transporting subunit alpha 4 Gene

关于 ATP1A4

功能概要

ATP1A4 基因产物(2)

ATP1A4 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z